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Article
GDNF gene therapy for alcohol use disorder in male non-human primates
Alcohol use disorder (AUD) exacts enormous personal, social and economic costs globally. Return to alcohol use in treatment-seeking patients with AUD is common, engendered by a cycle of repeated abstinence-rel...
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Protocol
Cerebellomedullary Cistern Injection of Viral Vectors in Nonhuman Primates
Gene therapy shows great promise for the treatment of neurological disorders, and accessing cerebrospinal fluid (CSF) from the cerebellomedullary cistern through the posterior atlanto-occipital membrane has be...
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Article
Open AccessPhenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because o...
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Article
Open AccessVasodilator-stimulated phosphoprotein (VASP) is not a major mediator of platelet aggregation, thrombogenesis, haemostasis, and antiplatelet effect of prasugrel in rats
Vasodilator-stimulated phosphoprotein (VASP) is a member of actin regulatory proteins implicated in platelet adhesion. In addition, phosphorylation of VASP is utilised for the assessment of platelet reactivity...
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Article
Reduced sensitivity of Niemann-Pick C1-deficient cells to θ-toxin (perfringolysin O): sequestration of toxin to raft-enriched membrane vesicles
θ-Toxin (perfringolysin O) binds to cell surface cholesterol and forms oligomeric pores that cause membrane damage. Both in cytotoxicity and cell survival assays, a mutant Chinese hamster ovary cell line NPC1(...
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Article
Structural basis of the GM2 gangliosidosis B variant
To study the structural basis of the GM2 gangliosidosis B variant, we constructed the three-dimensional structures of the human β-hexosaminidase α-subunit and the heterodimer of the α- and β-subunits, Hex A, b...
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Article
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
Complementary and genomic DNAs isolated from the fibroblasts of 10 Japanese (7 late infantile, 2 juvenile, and 1 adult form of the disease) and one Caucasian patient with Niemann-Pick disease type C were analy...
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Article
A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C
A cell line (SPM-3T3) derived from a C57BL/ KsJ mouse model of Niemann-Pick disease type C (NP-C) shows biochemical abnormalities similar to those in fibroblasts derived from NP-C. Somatic cell hybridization ...
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Article
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line
Two different single nucleotide transitions of hypoxanthine-guanine phosphoribosyltransferase (HPRT) were identified in a Japanese patient with Lesch-Nyhan syndrome (LNS) and a patient with hereditary gout. HP...
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Article
Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18
We searched for a human chromosome that would restore the cholesterol metabolism in 3T3 cell lines (SPM-3T3) derived from homozygous sphingomyelinosis mice (spm/spm). Mouse A9 cells containing a single copy of...
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Chapter and Conference Paper
Molecular Genetics of β-N-Acetylhexosaminidase α Subunit Mutations
Tay-Sachs disease is the prototype of human sphingolipidoses. Since the description of the disease a century ago, many other disorders have been added to the list. Generally, investigations of genetic sphingol...
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Article
Genetic analysis of control of proliferation in fibroblastic cells in culture. II. Alteration in proliferative and survival phenotypes in a set of temperature-sensitive mutants of rat 3Y1 cells after infection or transformation with simian virus 40
Mutants of rat 3Y1 fibroblasts, temperature sensitive for proliferation or survival and which represent each of eight complementation groups, were examined to determine whether cells made quiescent at confluen...
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Article
Genetic analysis of control of proliferation in fibroblastic cells in culture. I. Isolation and characterization of mutants temperature-sensitive for proliferation or survival of untransformed diploid rat cell line 3Y1
Mutants temperature sensitive for proliferation or survival were isolated from an untransformed diploid clone of fibroblastic rat cells (3Y1), according to an isolation protocol that selected for mutants defec.....
